Correlation Between Amniotic Fluid And High Risk Factors Of Birth Defects Detected ByLC-MS/MS

Objective : In order to make full use of amniotic fluid samples of patients with amniotic fluid puncture,and provide more reference for clinical diagnosis and treatment,based on liquid chromatography-tandem mass spectrometry(LC-MS/MS),we retrospectively analyzed the results of fetal ultrasound,amniotic fluid chromosome and clinical data of patients undergoing amniotic fluid puncture.We detect amino acids and acyl carnitine in amniotic fluid,screening and searching for new targets for neonatal birth defects.Methods : 1.This study collected the amniotic fluid of pregnant women who underwent amniotic fluid puncture guided by ultrasound from October 2017 to February 2018 in Shengjing Hospital,affiliated to China Medical University,and determined the basis of grouping according to the known data,and eliminated the unqualified objects.Finally,751 cases were selected,including 111 cases with abnormal ultrasound results and 96 cases with abnormal chromosome results of amniotic fluid cells.2.The clinical data of the patients were collected,including age,clinical examination results,personal fertility history,family history et al.3.The results of chromosome karyotype analysis of amniotic fluid cells in the clinical genetics department were statistically analyzed.4.The contents of amino acids and acyl carnitine in amniotic fluid were determined by liquid chromatography-tandem mass spectrometry(HPLC-MS).5.Combined with clinical data,known related examination results and amniotic fluid chromosome results,the difference indexes were found in the measured amino acid and acylcarnitine values.Results : 1.25 amino acid index and 44 acyl carnitine index were detected by LC-MS,and the difference of these index was analyzed by SPSS.There was a significant difference between the amniotic fluid of the normal control group and that of the abnormal fetal ultrasound group(P < 0 05).Among them,14 items of the increased indexes were Asp,Glu,Leu,Met,Phe,Trp,Tyr,Val,Arg/Orn,Phe/Tyr,C0(P < 0 05).Decreased indexes were 9 items,which were Ser,Cit/Arg,Leu/Phe,Gly/ Phe,C3/ C2,C4/ C2,C5/ C2,C5DC/ C8,C8/ C2.There was no significant difference between the other 41 index groups(P> 0.05).The results of chromosome cell culture and karyotype analysis showedthat the results of Gly/Phe,C6:1,C16-OH in abnormal group were higher than those in normal group,but the results of C4-OH and C3?C2 were significantly lower than those in normal group(P < 0.05).The results of chromosome culture and karyotype analysis in abnormal group were significantly lower than those in normal group(P < 0.05).2.Among the 25 amino acid indexes and 44 acylcarnitine indexes,there were 14 significant differences in amino acids between the control group and the ultrasonic of brain abnormality group,Cit/Arg?Met/Phe?Leu/Phe?Gly/Phe are incremental.And the date of Ala?Arg?Glu?Met?Phe?Trp?Tyr?Val?Arg/Orn?Phe/Tyr are depressed.A total of 6 significant difference indexes were found in acyl carnitine value,of which 3were increased,which were C3/C2.C 5/C 2,C 8 /C 2,the reduction index is C2,C4 OH,C8/1.Comparison between control group and ultrasonic abnormal in kidney group,The results of indicators Gly/Phe and C4/C2 are increased.Comparison between control group and ultrasonic abnormal in cardiac group,the date of Ser?Gly/Phe and C4/C2 increased,C2 and C4 OH are decreased.Comparison between control group and other ultrasonic abnormal group,the date of Cit/Arg?Leu/Phe?Gly/Phe?C4/C2 and C5DC/C8 are increased.And the date of Asp?Glu?Met?Phe?Trp?Arg/Orn?C0 and C2 are decreased.Conclusion:1.Amino acids and acylcarnitine in amniotic fluid of normal pregnant women and normal pregnant women with abnormal ultrasound and karyotype analysis were screened by LC-MS/MS,and there were significant differences in many results.These difference indexes have certain application value in speculating that fetal structure abnormality and amniotic fluid cell chromosome karyotype abnormality,and their price is low,the efficiency is high,and can be screened at the same time by multiple targets.2.There were significant differences in amino acids and acylcarnitine in amniotic fluid by LC-MS/MS technique in different fetal ultrasonic structural abnormalities.Screening these indexes has certain application value in suggesting fetal structural abnormalities.It can be used as a reference in fetal ultrasound examination.